Literature DB >> 11320193

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

O A Bodamer1, D S Rosenblatt, S H Appel, A L Beaudet.   

Abstract

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Year:  2001        PMID： 11320193     DOI： 10.1212/wnl.56.8.1113

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  19 in total

1.  Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

Authors:  Maria H Rahmandar; Amanda Bawcom; Mary E Romano; Rizwan Hamid
Journal:  Pediatrics       Date:  2014-11-03       Impact factor: 7.124

2.  The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Authors:  Luciana Hannibal; Patricia M DiBello; Michelle Yu; Abby Miller; Sihe Wang; Belinda Willard; David S Rosenblatt; Donald W Jacobsen
Journal:  Mol Genet Metab       Date:  2011-03-24       Impact factor: 4.797

3.  Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Authors:  Mohammed Almannai; Ronit Marom; Kristian Divin; Fernando Scaglia; V Reid Sutton; William J Craigen; Brendan Lee; Lindsay C Burrage; Brett H Graham
Journal:  Mol Genet Metab       Date:  2017-06-29       Impact factor: 4.797

Review 4.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Authors:  Nuria Carrillo-Carrasco; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

Review 5.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

6.  Treatment of cobalamin C (cblC) deficiency during pregnancy.

Authors:  Catherine Brunel-Guitton; Teresa Costa; Grant A Mitchell; Marie Lambert
Journal:  J Inherit Metab Dis       Date:  2010-09-10       Impact factor: 4.982

Review 7.  Peripheral neuropathy and inborn errors of metabolism in adults.

Authors:  F Sedel; C Barnerias; O Dubourg; I Desguerres; O Lyon-Caen; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2007-09-21       Impact factor: 4.982

8.  Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Authors:  James D Weisfeld-Adams; Mark A Morrissey; Brian M Kirmse; Bobbie R Salveson; Melissa P Wasserstein; Peter J McGuire; Sherlykutty Sunny; Jessica L Cohen-Pfeffer; Chunli Yu; Michele Caggana; George A Diaz
Journal:  Mol Genet Metab       Date:  2009-09-27       Impact factor: 4.797

9.  Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Authors:  D S Froese; S Healy; M McDonald; G Kochan; U Oppermann; F H Niesen; R A Gravel
Journal:  Mol Genet Metab       Date:  2010-02-15       Impact factor: 4.797

10.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       Impact factor: 4.982
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